A 19-year-old man with marfanoid habitus presents with multiple mucosal neuromas on his lips and tongue. Vital signs show BP 156/94 mmHg, HR 108 bpm, RR 16, temp 37°C. He denies weight loss despite increased appetite. Plasma metanephrines are elevated at 450 pg/mL (normal <90). Thyroid ultrasound reveals a hypoechoic nodule. He takes no medications. Physical examination reveals normal eye findings. Which syndrome best explains these findings?
- A)Tuberous sclerosis
- B)MEN 2BGABARITO
- C)MEN 2A
- D)Peutz Jeghers syndrome
- E)MEN 1
Explicação
MEN 2B includes medullary thyroid carcinoma, pheochromocytoma, mucosal neuromas, and marfanoid habitus. Like MEN 2A, it is caused by activating RET mutations, but parathyroid hyperplasia is not a typical feature. The mucosal neuromas are the giveaway clue. Ver explicação completa e trilha adaptativa →